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脊髓弥漫性中线胶质瘤-变异型:1例伴有颅外骨骼转移的罕见肿瘤病例报告及文献综述

Spinal Diffuse Midline Glioma -Altered: Report of a Rare Tumor with Extracranial Skeletal Metastases and Review of Literature.

作者信息

Rathi Aditi, Choudhari Amit Kumar, Chatterjee Abhishek, Sahay Ayushi, Bhattacharya Kajari, Sahu Arpita, Puranik Ameya D, Shah Aekta, Dasgupta Archya, Gupta Tejpal, Epari Sridhar

机构信息

Department of Pathology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.

Department of Radiology, Tata Memorial Hospital and ACTREC, Tata Memorial Centre, Homi Bhabha National Institute, Mumbai, India.

出版信息

Int J Surg Pathol. 2025 Jun;33(4):907-915. doi: 10.1177/10668969241286243. Epub 2024 Oct 8.

Abstract

Diffuse midline glioma, -altered is a rare and aggressive pediatric brain tumor with a grim prognosis. Diffuse midline glioma is characterized by specific molecular alterations, including mutations, and involves deep midline structures such as the brainstem, cerebellum, spinal cord, and thalamus. These tumors present with a classic triad of symptoms and have limited surgical options due to their challenging locations. Extra-neural metastases are an unusual occurrence in diffuse midline glioma and have been rarely described. Here we report a 17-year-old girl with spinal diffuse midline glioma, who presented with multiple metastatic osseous lesions confirmed on biopsy of the thoracic vertebral lesion. Due to the rapid disease progression, the patient was recommended palliative therapy. Extra-neural metastases in diffuse midline glioma are rare, with only 16 reported patients, and no standard therapy exists. An accurate and early diagnosis is necessary to develop a personalized plan of treatment. Further research is needed to gain insights into the molecular pathology of diffuse midline glioma, -altered, and improve the quality of life and the outcome of patients with this deadly disease.

摘要

弥漫性中线胶质瘤,H3K27M突变型是一种罕见且侵袭性强的儿童脑肿瘤,预后不佳。弥漫性中线胶质瘤的特征是具有特定的分子改变,包括突变,并且累及脑干、小脑、脊髓和丘脑等深部中线结构。这些肿瘤具有典型的三联征症状,由于其位置具有挑战性,手术选择有限。神经外转移在弥漫性中线胶质瘤中并不常见,且鲜有报道。在此,我们报告一名17岁患有脊髓弥漫性中线胶质瘤的女孩,其经胸椎病变活检证实存在多处转移性骨病变。由于疾病进展迅速,建议对该患者进行姑息治疗。弥漫性中线胶质瘤的神经外转移罕见,仅有16例报道病例,且尚无标准治疗方案。准确的早期诊断对于制定个性化治疗方案至关重要。需要进一步研究以深入了解弥漫性中线胶质瘤,H3K27M突变型的分子病理学,并改善这种致命疾病患者的生活质量和治疗结果。

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